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rs1057516914

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516914(-;-)
Make rs1057516914(-;C)
ReferenceGRCh38.p7 38.3/150
Chromosome12
Position102852912
GenePAH
is asnp
is mentioned by
dbSNPrs1057516914
dbSNP (old)rs1057516914
ClinGenrs1057516914
ebirs1057516914
HLIrs1057516914
Exacrs1057516914
Gnomadrs1057516914
Varsomers1057516914
LitVarrs1057516914
Maprs1057516914
PheGenIrs1057516914
Biobankrs1057516914
1000 genomesrs1057516914
hgdprs1057516914
ensemblrs1057516914
gopubmedrs1057516914
geneviewrs1057516914
scholarrs1057516914
googlers1057516914
pharmgkbrs1057516914
gwascentralrs1057516914
openSNPrs1057516914
23andMers1057516914
23andMe allrs1057516914
SNPshotrs1057516914
SNPdbers1057516914
MSV3drs1057516914
GWAS Ctlgrs1057516914
Max Magnitude0
ClinVar
Risk rs1057516914(-;-)
Alt rs1057516914(-;-)
Reference Rs1057516914(C;C)
Significance Probable-Pathogenic
Disease Phenylketonuria
Variation info
Gene PAH
CLNDBN Phenylketonuria
Reversed 1
HGVS NC_000012.11:g.103246690delG
CLNSRC
CLNACC RCV000410522.1,